Incidental Mutation 'R6417:Zswim3'
| ID |
518110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim3
|
| Ensembl Gene |
ENSMUSG00000045822 |
| Gene Name |
zinc finger SWIM-type containing 3 |
| Synonyms |
4921517A06Rik |
| MMRRC Submission |
044559-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R6417 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164647034-164664047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 164662653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 378
(V378M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017908]
[ENSMUST00000052107]
[ENSMUST00000132282]
|
| AlphaFold |
Q8CFL8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017908
|
| SMART Domains |
Protein: ENSMUSP00000017908
Gene: ENSMUSG00000017764
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIM
|
342 |
375 |
2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052107
AA Change: V378M
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822
AA Change: V378M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
436 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
489 |
N/A |
INTRINSIC |
|
ZnF_PMZ
|
546 |
573 |
2.09e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132282
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.8%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,996,351 (GRCm39) |
K1426E |
possibly damaging |
Het |
| Abra |
C |
T |
15: 41,729,452 (GRCm39) |
R316H |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,070 (GRCm39) |
T729S |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,579,269 (GRCm39) |
S560P |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,693,574 (GRCm39) |
V111I |
probably damaging |
Het |
| Eif2ak2 |
A |
C |
17: 79,164,048 (GRCm39) |
L439R |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,696,549 (GRCm39) |
R2446C |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,709 (GRCm39) |
F459S |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,048,054 (GRCm39) |
D914G |
probably damaging |
Het |
| Or4d10 |
T |
G |
19: 12,051,324 (GRCm39) |
K224T |
probably benign |
Het |
| Or5b24 |
A |
C |
19: 12,912,584 (GRCm39) |
T161P |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,890 (GRCm39) |
S253T |
probably benign |
Het |
| Or8b41 |
T |
G |
9: 38,054,611 (GRCm39) |
L55R |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,510 (GRCm39) |
C97* |
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,740,638 (GRCm39) |
C2153Y |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,199,906 (GRCm39) |
V471A |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,103,542 (GRCm39) |
I1906T |
probably damaging |
Het |
| Slc16a12 |
T |
C |
19: 34,650,097 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
T |
C |
17: 57,359,780 (GRCm39) |
I324V |
probably damaging |
Het |
| Sord |
A |
T |
2: 122,094,602 (GRCm39) |
K330M |
possibly damaging |
Het |
| Srp54b |
T |
A |
12: 55,296,855 (GRCm39) |
F184L |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,846,056 (GRCm39) |
E220G |
probably damaging |
Het |
| Tfrc |
C |
T |
16: 32,449,057 (GRCm39) |
T732I |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,297 (GRCm39) |
T696A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,542,619 (GRCm39) |
Y33456H |
possibly damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,773,938 (GRCm39) |
R1490W |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,553,956 (GRCm39) |
D162V |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,205,094 (GRCm39) |
G377D |
probably damaging |
Het |
|
| Other mutations in Zswim3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Zswim3
|
APN |
2 |
164,663,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01345:Zswim3
|
APN |
2 |
164,662,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Zswim3
|
APN |
2 |
164,663,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Zswim3
|
APN |
2 |
164,663,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01634:Zswim3
|
APN |
2 |
164,661,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02165:Zswim3
|
APN |
2 |
164,663,035 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02173:Zswim3
|
APN |
2 |
164,662,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02336:Zswim3
|
APN |
2 |
164,662,297 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02379:Zswim3
|
APN |
2 |
164,662,602 (GRCm39) |
splice site |
probably null |
|
|
R0321:Zswim3
|
UTSW |
2 |
164,662,279 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1489:Zswim3
|
UTSW |
2 |
164,661,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Zswim3
|
UTSW |
2 |
164,661,913 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2176:Zswim3
|
UTSW |
2 |
164,662,614 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2859:Zswim3
|
UTSW |
2 |
164,662,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3853:Zswim3
|
UTSW |
2 |
164,662,777 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4434:Zswim3
|
UTSW |
2 |
164,662,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4435:Zswim3
|
UTSW |
2 |
164,662,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4436:Zswim3
|
UTSW |
2 |
164,662,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4438:Zswim3
|
UTSW |
2 |
164,662,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4805:Zswim3
|
UTSW |
2 |
164,662,099 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5874:Zswim3
|
UTSW |
2 |
164,662,032 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6420:Zswim3
|
UTSW |
2 |
164,662,653 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6722:Zswim3
|
UTSW |
2 |
164,662,544 (GRCm39) |
splice site |
probably null |
|
|
R6786:Zswim3
|
UTSW |
2 |
164,662,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Zswim3
|
UTSW |
2 |
164,662,402 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7467:Zswim3
|
UTSW |
2 |
164,661,795 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7487:Zswim3
|
UTSW |
2 |
164,662,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7788:Zswim3
|
UTSW |
2 |
164,661,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Zswim3
|
UTSW |
2 |
164,662,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8308:Zswim3
|
UTSW |
2 |
164,663,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Zswim3
|
UTSW |
2 |
164,662,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9353:Zswim3
|
UTSW |
2 |
164,662,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9527:Zswim3
|
UTSW |
2 |
164,662,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCACTCGTCTCTTGGAG -3'
(R):5'- CTCCTTAACTTGGGAGCATTTG -3'
Sequencing Primer
(F):5'- CGTCTCTTGGAGAAGAAGTTACACC -3'
(R):5'- CATTTGTGGGCAAGCTCTTCAGAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation